Publications by authors named "Axel Bohring"

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Axel Bohring

Am J Hum Genet· July 2025

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ANKRD11 variants: KBG syndrome and beyond.
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Axel Bohring

Clin Genet· August 2021

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Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.
Friedrich Stock, Marcel Hanisch, Sarah Lechner, Saskia Biskup, Axel Bohring

Biomolecules· January 2021

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Expanding the clinical spectrum of recessive truncating mutations of to a Bohring-Opitz-like phenotype.
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Axel Bohring

J Med Genet· December 2017

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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Axel Bohring

Am J Med Genet A· July 2017

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Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Axel Bohring

Am J Pathol· December 2016

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M Wade, Philip B Daniel, Zandra A Jenkins, Aideen McInerney-Leo, Paul Leo, Axel Bohring

Am J Hum Genet· August 2016

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47 patients with FLNA associated periventricular nodular heterotopia.
Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger

Orphanet J Rare Dis· October 2015

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Axel Bohring

PLoS One· September 2014

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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Axel Bohring

Hum Mutat· June 2013

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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Gabriele Wildhardt, Birgit Zirn, Luitgard M Graul-Neumann, Juliane Wechtenbruch, Markus Suckfüll, Axel Bohring

BMJ Open· March 2013

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Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients.
Anja Harder, Martin Wesemann, Christian Hagel, Jens Schittenhelm, Susan Fischer, Axel Bohring

Am J Surg Pathol· May 2012

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The male phenotype in osteopathia striata congenita with cranial sclerosis.
Sarah K Holman, Phil Daniel, Zandra A Jenkins, Rachel L Herron, Tim Morgan, Axel Bohring

Am J Med Genet A· October 2011

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Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Holm Schneider, Johanna Hammersen, Sabine Preisler-Adams, Kenneth Huttner, Wolfgang Rascher, Axel Bohring

J Med Genet· June 2011

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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Kathrin Wessels, Bettina Bohnhorst, Ingrid Luhmer, Susanne Morlot, Axel Bohring

Eur J Med Genet· January 2011

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The face of Noonan syndrome: Does phenotype predict genotype.
Judith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, Andreas Dufke, Gabrielle Gillessen-Kaesbach

Am J Med Genet A· August 2010

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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Diana Mitter, Barbara Delle Chiaie, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Axel Bohring

Am J Med Genet A· May 2010

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WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia Haase, Kerstin Spree

Am J Hum Genet· July 2009

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New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Wolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, Bianca Miterski, Christiane Zweier, Axel Bohring

Ann Hum Genet· May 2009

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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, Aaron Jeffs, Ryuji Fukuzawa, Axel Bohring

Nat Genet· January 2009

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Ute Hehr, Goekhan Uyanik, Claudia Gross, Maggie C Walter, Axel Bohring

Neurogenetics· November 2007

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Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto, Axel Bohring

Am J Hum Genet· October 2007

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Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, Susanna G M Frints, Axel Bohring

Hum Mutat· June 2007

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A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.
Nadia Bogdanova, Jürgen Horst, Marcin Chlystun, Peter J P Croucher, Almut Nebel, Axel Bohring

Hum Mol Genet· March 2007

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New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
Axel Bohring, Grétel G Oudesluijs, Dorothy K Grange, Giuseppe Zampino, Patrick Thierry

Am J Med Genet A· June 2006

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